Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01295:Nfatc4'

73062

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nfatc4

Ensembl Gene

ENSMUSG00000023411

Gene Name

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 4

Synonyms

3110041H08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01295

Quality Score

Status

Chromosome

Chromosomal Location

56062252-56071400 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56069962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 710 (V710A)

Ref Sequence

ENSEMBL: ENSMUSP00000154682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024179] [ENSMUST00000172271] [ENSMUST00000226357]

AlphaFold

Q8K120

Predicted Effect

probably benign
Transcript: ENSMUST00000024179
AA Change: V780A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000024179
Gene: ENSMUSG00000023411
AA Change: V780A

Domain	Start	End	E-Value	Type
low complexity region	18	35	N/A	INTRINSIC
low complexity region	53	82	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
low complexity region	114	130	N/A	INTRINSIC
low complexity region	151	190	N/A	INTRINSIC
low complexity region	211	224	N/A	INTRINSIC
low complexity region	272	285	N/A	INTRINSIC
low complexity region	286	312	N/A	INTRINSIC
Pfam:RHD_DNA_bind	419	578	3.5e-23	PFAM
IPT	585	684	1.29e-21	SMART
low complexity region	700	711	N/A	INTRINSIC
low complexity region	716	726	N/A	INTRINSIC
low complexity region	803	825	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172271
AA Change: V780A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000132763
Gene: ENSMUSG00000023411
AA Change: V780A

Domain	Start	End	E-Value	Type
low complexity region	18	35	N/A	INTRINSIC
low complexity region	53	82	N/A	INTRINSIC
low complexity region	96	108	N/A	INTRINSIC
low complexity region	114	130	N/A	INTRINSIC
low complexity region	151	190	N/A	INTRINSIC
low complexity region	211	224	N/A	INTRINSIC
low complexity region	272	285	N/A	INTRINSIC
low complexity region	286	312	N/A	INTRINSIC
Pfam:RHD	419	578	3.4e-23	PFAM
IPT	585	684	1.29e-21	SMART
low complexity region	700	711	N/A	INTRINSIC
low complexity region	716	726	N/A	INTRINSIC
low complexity region	803	825	N/A	INTRINSIC
low complexity region	878	889	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226293

Predicted Effect

probably benign
Transcript: ENSMUST00000226357
AA Change: V710A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226834

Predicted Effect

probably benign
Transcript: ENSMUST00000228308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227746

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nuclear factor of activated T cells (NFAT) protein family. The encoded protein is part of a DNA-binding transcription complex. This complex consists of at least two components: a preexisting cytosolic component that translocates to the nucleus upon T cell receptor stimulation and an inducible nuclear component. NFAT proteins are activated by the calmodulin-dependent phosphatase, calcineurin. The encoded protein plays a role in the inducible expression of cytokine genes in T cells, especially in the induction of interleukin-2 and interleukin-4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal and exhibit normal embryonic heart morphology as well as normal pathophysiologic cardiac hypertrophy in response to angiotensin II infusion or aortic banding. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,893 (GRCm39)	L691I	possibly damaging	Het
Ano7	A	G	1: 93,308,200 (GRCm39)	D77G	probably benign	Het
Apol10b	A	T	15: 77,469,796 (GRCm39)	V127E	probably damaging	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Atn1	T	C	6: 124,726,239 (GRCm39)	E80G	probably damaging	Het
Carmil2	T	C	8: 106,422,148 (GRCm39)	M1139T	probably benign	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Celf5	G	T	10: 81,302,914 (GRCm39)		probably benign	Het
Chd6	G	A	2: 160,830,290 (GRCm39)		probably benign	Het
Col12a1	A	T	9: 79,551,208 (GRCm39)	V2136E	probably damaging	Het
Col4a1	G	T	8: 11,286,075 (GRCm39)		probably benign	Het
Dph1	A	G	11: 75,071,775 (GRCm39)		probably benign	Het
Dvl2	G	T	11: 69,900,410 (GRCm39)	V735F	possibly damaging	Het
Eif3b	A	G	5: 140,427,495 (GRCm39)	I709V	possibly damaging	Het
Elp5	C	T	11: 69,859,296 (GRCm39)		probably benign	Het
Exd1	A	T	2: 119,360,560 (GRCm39)		probably benign	Het
Fbxl4	C	A	4: 22,427,348 (GRCm39)	R530S	probably benign	Het
Fmo4	A	T	1: 162,626,693 (GRCm39)	D284E	probably damaging	Het
Fn3krp	A	G	11: 121,312,380 (GRCm39)	Y31C	probably damaging	Het
Galnt14	G	T	17: 73,811,914 (GRCm39)	Q436K	probably benign	Het
Gm5114	A	T	7: 39,057,241 (GRCm39)	W793R	probably damaging	Het
Gm9376	T	G	14: 118,505,059 (GRCm39)	S164A	possibly damaging	Het
Gtf2ird2	G	A	5: 134,221,603 (GRCm39)	D69N	probably damaging	Het
Hfm1	A	C	5: 107,065,472 (GRCm39)	M69R	possibly damaging	Het
Ighv9-1	A	C	12: 114,057,619 (GRCm39)	S94A	probably damaging	Het
Ikzf2	C	T	1: 69,617,146 (GRCm39)	R67H	probably benign	Het
Ipcef1	A	T	10: 6,850,642 (GRCm39)	F316L	probably damaging	Het
Kdsr	A	G	1: 106,683,187 (GRCm39)	V62A	possibly damaging	Het
Kif23	A	T	9: 61,839,411 (GRCm39)	C279S	possibly damaging	Het
Klf5	C	T	14: 99,539,157 (GRCm39)	T110I	probably benign	Het
Klhl25	T	A	7: 75,515,620 (GRCm39)	H175Q	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Optn	G	A	2: 5,037,967 (GRCm39)	T409I	possibly damaging	Het
Or10j3b	A	T	1: 173,043,440 (GRCm39)	Y74F	probably damaging	Het
Or52a5	C	T	7: 103,427,448 (GRCm39)	V35I	probably benign	Het
Pabpc2	T	A	18: 39,907,082 (GRCm39)	Y116N	probably damaging	Het
Pafah1b1	G	T	11: 74,574,473 (GRCm39)	R238S	probably damaging	Het
Pdzd9	C	T	7: 120,267,618 (GRCm39)	G66R	probably damaging	Het
Pih1d1	T	C	7: 44,809,388 (GRCm39)	L285P	probably damaging	Het
Pirb	G	A	7: 3,720,405 (GRCm39)	P323S	probably damaging	Het
Pkd1l1	A	G	11: 8,883,685 (GRCm39)	F396L	possibly damaging	Het
Pla2g4d	G	A	2: 120,112,207 (GRCm39)	T108M	probably damaging	Het
Plin3	T	C	17: 56,586,814 (GRCm39)	Y411C	probably damaging	Het
Ppfibp2	T	C	7: 107,346,746 (GRCm39)		probably benign	Het
Prrc2c	T	C	1: 162,510,061 (GRCm39)	S995G	probably damaging	Het
Ptf1a	T	C	2: 19,451,429 (GRCm39)	I253T	probably damaging	Het
Ptprb	A	G	10: 116,198,553 (GRCm39)	I1684V	probably benign	Het
Ptprk	G	A	10: 28,351,174 (GRCm39)	V556I	probably benign	Het
Rffl	A	T	11: 82,709,283 (GRCm39)	C47S	probably damaging	Het
Rnf17	C	T	14: 56,700,521 (GRCm39)	Q569*	probably null	Het
Shprh	A	G	10: 11,059,612 (GRCm39)	E1121G	probably damaging	Het
Slc1a5	A	G	7: 16,529,787 (GRCm39)	D402G	probably damaging	Het
Slc24a3	G	A	2: 145,458,634 (GRCm39)		probably null	Het
Slc2a13	T	A	15: 91,234,335 (GRCm39)		probably null	Het
Slc30a8	A	T	15: 52,169,955 (GRCm39)	N61Y	possibly damaging	Het
Slitrk6	A	T	14: 110,988,868 (GRCm39)	S280T	possibly damaging	Het
Smad2	G	A	18: 76,435,501 (GRCm39)	A365T	probably benign	Het
Tcp10b	C	T	17: 13,299,047 (GRCm39)	P367S	probably damaging	Het
Tdp1	A	G	12: 99,857,929 (GRCm39)	N163D	probably benign	Het
Thbs1	A	G	2: 117,948,808 (GRCm39)	D488G	possibly damaging	Het
Trappc12	C	T	12: 28,796,761 (GRCm39)	S257N	probably damaging	Het
Treml1	T	C	17: 48,672,627 (GRCm39)		probably benign	Het
Ugt2b36	A	G	5: 87,228,744 (GRCm39)	V234A	probably damaging	Het
Vmn2r86	T	G	10: 130,288,895 (GRCm39)	H202P	probably damaging	Het
Vmn2r87	C	A	10: 130,307,878 (GRCm39)	V787F	probably damaging	Het
Wbp2nl	T	A	15: 82,190,619 (GRCm39)	M129K	probably damaging	Het
Zdhhc15	T	C	X: 103,588,519 (GRCm39)		probably null	Het

Other mutations in Nfatc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00690:Nfatc4	APN	14	56,070,019 (GRCm39)	missense	probably damaging	1.00
IGL01791:Nfatc4	APN	14	56,069,695 (GRCm39)	missense	probably null	0.04
IGL02536:Nfatc4	APN	14	56,067,367 (GRCm39)	missense	probably damaging	1.00
R0448:Nfatc4	UTSW	14	56,069,111 (GRCm39)	missense	possibly damaging	0.90
R0571:Nfatc4	UTSW	14	56,067,485 (GRCm39)	missense	probably damaging	0.96
R0743:Nfatc4	UTSW	14	56,064,101 (GRCm39)	missense	probably damaging	1.00
R0884:Nfatc4	UTSW	14	56,064,101 (GRCm39)	missense	probably damaging	1.00
R0965:Nfatc4	UTSW	14	56,064,043 (GRCm39)	missense	probably damaging	1.00
R1141:Nfatc4	UTSW	14	56,070,088 (GRCm39)	missense	probably damaging	1.00
R2309:Nfatc4	UTSW	14	56,064,461 (GRCm39)	missense	probably damaging	1.00
R2680:Nfatc4	UTSW	14	56,070,291 (GRCm39)	unclassified	probably benign
R4200:Nfatc4	UTSW	14	56,069,489 (GRCm39)	missense	probably damaging	1.00
R4905:Nfatc4	UTSW	14	56,068,039 (GRCm39)	missense	probably benign	0.16
R5067:Nfatc4	UTSW	14	56,069,875 (GRCm39)	missense	probably damaging	0.98
R5202:Nfatc4	UTSW	14	56,064,116 (GRCm39)	missense	probably damaging	1.00
R5415:Nfatc4	UTSW	14	56,070,091 (GRCm39)	missense	probably benign
R5585:Nfatc4	UTSW	14	56,064,212 (GRCm39)	missense	probably damaging	0.98
R5599:Nfatc4	UTSW	14	56,069,733 (GRCm39)	missense	probably benign	0.02
R6030:Nfatc4	UTSW	14	56,069,897 (GRCm39)	nonsense	probably null
R6030:Nfatc4	UTSW	14	56,069,897 (GRCm39)	nonsense	probably null
R6172:Nfatc4	UTSW	14	56,066,990 (GRCm39)	missense	possibly damaging	0.83
R7292:Nfatc4	UTSW	14	56,062,512 (GRCm39)	missense	probably damaging	1.00
R7473:Nfatc4	UTSW	14	56,069,421 (GRCm39)	missense	probably benign	0.19
R7738:Nfatc4	UTSW	14	56,069,414 (GRCm39)	missense	possibly damaging	0.83
R8309:Nfatc4	UTSW	14	56,063,848 (GRCm39)	missense	probably damaging	0.99
R8445:Nfatc4	UTSW	14	56,063,875 (GRCm39)	missense	possibly damaging	0.85
R8853:Nfatc4	UTSW	14	56,063,690 (GRCm39)	missense	probably damaging	0.98
R9177:Nfatc4	UTSW	14	56,064,685 (GRCm39)	missense	probably damaging	1.00
R9268:Nfatc4	UTSW	14	56,064,685 (GRCm39)	missense	probably damaging	1.00
R9553:Nfatc4	UTSW	14	56,070,259 (GRCm39)	missense	probably damaging	1.00
R9667:Nfatc4	UTSW	14	56,066,964 (GRCm39)	missense	probably benign	0.36

Posted On

2013-10-07